Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]
Official Title: Multi-center Study of the Liver Disease in European Patients With alpha1-antitrypsin Deficiency
Brief Summary:
Alpha1-antitrypsin deficiency (AATD) is the third most common genetic disorder leading to death worldwide. Apart from lung disease, AATD also leads to liver involvement in up to 50% of patients. Hence, liver involvement is the second most common cause of morbidity and mortality in AATD patients. But the natural history of disease in adults is not well understood and specific therapies are still in the phase of preclinical studies. Despite these facts and the therapeutic and preventative potential, the AATD-related liver disease is still largely being neglected by both the patients and the healthcare professionals.
To improve the hepatologic care of patients with AATD, the investigators initiated a prospective multi-center study in Europe that systematically evaluates the liver function in these patients and their relatives. The investigators cooperate with both patient organizations as well as with lung centers specialized on AATD-related lung disease.